Canonical Allele Identifier: CA369863667

Gene: KCNH2

Linked Data

• dbSNP Id: rs146284716
• gnomAD v3: 7-150959613-T-C
• gnomAD v4: 7-150959613-T-C
• MyVariant Identifiers: chr7:g.150656701T>C (hg19) ; chr7:g.150959613T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.150959613T>C , CM000669.2:g.150959613T>C	GRCh38
NC_000007.13:g.150656701T>C , CM000669.1:g.150656701T>C	GRCh37
NC_000007.12:g.150287634T>C	NCBI36
NG_008916.1:g.23314A>G , LRG_288:g.23314A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000684241.1:n.1264A>G
ENST00000262186.10:c.431A>G MANE Select	ENSP00000262186.5:p.Asp144Gly
ENST00000262186.9:c.431A>G	ENSP00000262186.5:p.Asp144Gly
ENST00000430723.4:c.234+20A>G	ENSP00000387657.4:n.234+20A>G
ENST00000532957.5:n.654A>G
NM_000238.3:c.431A>G , LRG_288t1:c.431A>G	NP_000229.1:p.Asp144Gly
NM_172056.2:c.431A>G , LRG_288t2:c.431A>G	NP_742053.1:p.Asp144Gly
XM_011516185.1:c.131A>G	XP_011514487.1:p.Asp44Gly
XM_011516186.1:c.431A>G	XP_011514488.1:p.Asp144Gly
XM_011516185.2:c.131A>G	XP_011514487.1:p.Asp44Gly
XM_011516186.3:c.431A>G	XP_011514488.1:p.Asp144Gly
XM_017012195.1:c.281A>G	XP_016867684.1:p.Asp94Gly
XM_017012196.1:c.254A>G	XP_016867685.1:p.Asp85Gly
NM_000238.4:c.431A>G MANE Select	NP_000229.1:p.Asp144Gly